ClinVar Miner

List of variants in gene ZAP70 studied for autoimmune disease, multisystem, infantile-onset

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001079.4(ZAP70):c.1082+8C>T rs55933862 0.00271
NM_001079.4(ZAP70):c.1645A>G (p.Met549Val) rs150950017 0.00036
NM_001079.4(ZAP70):c.988C>T (p.Leu330Phe) rs371574765 0.00005
NM_001079.4(ZAP70):c.732C>T (p.Asp244=) rs201683657 0.00004
NM_001079.4(ZAP70):c.692C>T (p.Thr231Met) rs141613906 0.00002
NM_001079.4(ZAP70):c.1079G>C (p.Arg360Pro) rs869025224 0.00001
NM_001079.4(ZAP70):c.440C>T (p.Pro147Leu) rs368446882 0.00001
NM_001079.4(ZAP70):c.574C>T (p.Arg192Trp) rs199840952 0.00001
NM_001079.4(ZAP70):c.512A>G (p.Glu171Gly) rs199631517
NM_001079.4(ZAP70):c.939C>T (p.Ser313=)

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